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Genetic Testing Unlocks Family's Future 

Ann & Robert H. Lurie Children's Hospital of Chicago
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For years, the Robinson family searched for the cause of their firstborn child's seizures and developmental delays. When their third child began having similar issues shortly after birth, the family finally found an answer in their genes. Learn more about the Division of Genetics, Genomics and Metabolism at Lurie Children's: www.luriechildrens.org/en/spe...

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21 май 2024

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Комментарии : 15   
@jeanrichardson2044
@jeanrichardson2044 Месяц назад
This was awesome. I am so sorry that Benny was not caught early, but he looks as though he brings you all much joy. When I started working in our local maternity hospital in the 1970s I can remember reporting a very unusual first bowel motion from a wee girl. Subsequently from the genetic test card she was diagnosed as having cystic fibrosis, as did her sister. It had recently been added as one of the tests we did then. Early intervention made a huge difference.
@rebeccaburke3864
@rebeccaburke3864 Месяц назад
Thank you for sharing your story and advocating for the newborn screening!
@SH-sz6yq
@SH-sz6yq Месяц назад
My daughter was 2 when she got diagnosed. She is now 31 and mother of 3
@swaziswimmer
@swaziswimmer Месяц назад
Good for you all to keep pushing to add it to the newborn testing list!!!!
@sarahelliott7926
@sarahelliott7926 Месяц назад
Thats awesome that they have this condition checked during newborn screening. At least there is some type of treatmrnt available that can possibly improve this disorder. I have a genetic disorder called PWS. There is no cure and they unable to curve the insatiable appetite that is beyond our control. I am 43 and i had hormone replacement therapy as a teenager. It is my hope that one day they can find some type of medicine or treatment that can curve the appetite. Im missing an enzyme needed for digestion purposes so my brain always thinks about food. I am always hungry unless i just finished meal but its rare. We are always hungry.
@petersampson5202
@petersampson5202 Месяц назад
DEAR MR. BENNY, THE ROBINSON FAMILY, DR. BAKER, MRS. KIM, MS. CELIA & EVERYONE AT ANN & ROBERT H. LURIE CHILDREN'S HOSPITAL OF CHICAGO, GOD BLESS YOU MY FRIENDS. I AM VERY PROUD OF YOU AND VERY HAPPY FOR YOU. I HOPE ALL OF YOUR DREAMS COME TRUE. I LOVE YOU SO VERY MUCH. I LOVE ANN & ROBERT H. LURIE CHILDREN'S HOSPITAL OF CHICAGO SO VERY MUCH. SINCERELY PETER
@melb.6617
@melb.6617 Месяц назад
Did I See a cataract in the left eye of the youngest girl and the boys eye?
@carinacnl4985
@carinacnl4985 Месяц назад
What a beautiful family.
@TheAccidentalViking
@TheAccidentalViking Месяц назад
The leukocoria is right there in that photo of the kids.
@shakeyj4523
@shakeyj4523 Месяц назад
I'm sure they know, and at least we know the worst possibility is not the cause of it.
@nancyshrout-wankowski7147
@nancyshrout-wankowski7147 Месяц назад
What is up with the eyes of two of the kids?
@gabriellakiss1719
@gabriellakiss1719 Месяц назад
4:16 ?
@chellesama8256
@chellesama8256 Месяц назад
Leukocoria - literally white pupil - is from an abnormal reflex in the pupil. It's indicative of several possible disorders.
@nutrirebyanaluarrivillaga2646
@nutrirebyanaluarrivillaga2646 Месяц назад
She looks so much like Celine Dion 😮
@paulettehall4614
@paulettehall4614 24 дня назад
Why in the hell would you have another kid after the first one
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